PMID: 18049162

Takahashi A, Hasegawa M, Sumazaki R, Suzuki M, Toki F, Suehiro T, Onigata K, Tomomasa T, Suzuki T, Matsui A, Morikawa A, Kuwano H
Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2.
Eur J Gastroenterol Hepatol. 2007 Nov;19(11):942-6., [PubMed]
Sentences
No. Mutations Sentence Comment
2 ABCB11 p.Phe540Leu
X
ABCB11 p.Phe540Leu 18049162:2:132
status: NEW
view ABCB11 p.Phe540Leu details
 Genetic examination revealed a normal familial intrahepatic cholestasis-1 gene, but a heterozygous mutation for the ABCB11, C1620A (F540L), was observed. Login to comment 54 ABCB11 p.Phe540Leu
X
ABCB11 p.Phe540Leu 18049162:54:31
status: NEW
view ABCB11 p.Phe540Leu details
 The missense mutation, C1620A (F540L), was found in exon 14. Login to comment 74 ABCB11 p.Phe540Leu
X
ABCB11 p.Phe540Leu 18049162:74:21
status: NEW
view ABCB11 p.Phe540Leu details
 The C1620A mutation (F540L) is observed in the patient (shown in arrow). Login to comment 76 ABCB11 p.Phe540Leu
X
ABCB11 p.Phe540Leu 18049162:76:123
status: NEW
view ABCB11 p.Phe540Leu details
 In addition, the genetic findings revealed no mutation in the PFIC1 gene, but heterozygous mutation of the ABCB11 (C1620A, F540L) was recognized. Login to comment